Child AH - Search Results

1

Child AH, Gordon KD, Sharpe P, Brice G, Ostergaard P, Jeffery S, Mortimer PS. Child AH, et al. Am J Med Genet A. 2010 Apr;152A(4):970-6. doi: 10.1002/ajmg.a.33313. Am J Med Genet A. 2010. PMID: 20358611

2

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

Ostergaard P, Simpson MA, Brice G, Mansour S, Connell FC, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer PS, Trembath R, Jeffery S. Ostergaard P, et al. Among authors: child ah. J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25. J Med Genet. 2011. PMID: 21266381

3

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

Sholto-Douglas-Vernon C, Bell R, Brice G, Mansour S, Sarfarazi M, Child AH, Smith A, Mellor R, Burnand K, Mortimer P, Jeffery S. Sholto-Douglas-Vernon C, et al. Among authors: child ah. Hum Genet. 2005 Jul;117(2-3):238-42. doi: 10.1007/s00439-005-1275-2. Epub 2005 May 20. Hum Genet. 2005. PMID: 15906099

4

Mapping of primary congenital lymphedema to the 5q35.3 region.

Evans AL, Brice G, Sotirova V, Mortimer P, Beninson J, Burnand K, Rosbotham J, Child A, Sarfarazi M. Evans AL, et al. Am J Hum Genet. 1999 Feb;64(2):547-55. doi: 10.1086/302248. Am J Hum Genet. 1999. PMID: 9973292 Free PMC article.

5

A gene for lymphedema-distichiasis maps to 16q24.3.

Mangion J, Rahman N, Mansour S, Brice G, Rosbotham J, Child AH, Murday VA, Mortimer PS, Barfoot R, Sigurdsson A, Edkins S, Sarfarazi M, Burnand K, Evans AL, Nunan TO, Stratton MR, Jeffery S. Mangion J, et al. Among authors: child ah. Am J Hum Genet. 1999 Aug;65(2):427-32. doi: 10.1086/302500. Am J Hum Genet. 1999. PMID: 10417285 Free PMC article.

6

Distichiasis-lymphoedema: clinical features, venous function and lymphoscintigraphy.

Rosbotham JL, Brice GW, Child AH, Nunan TO, Mortimer PS, Burnand KG. Rosbotham JL, et al. Among authors: child ah. Br J Dermatol. 2000 Jan;142(1):148-52. doi: 10.1046/j.1365-2133.2000.03258.x. Br J Dermatol. 2000. PMID: 10651712

7

Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.

Bell R, Brice G, Child AH, Murday VA, Mansour S, Sandy CJ, Collin JR, Brady AF, Callen DF, Burnand K, Mortimer P, Jeffery S. Bell R, et al. Among authors: child ah. Hum Genet. 2001 Jun;108(6):546-51. doi: 10.1007/s004390100528. Hum Genet. 2001. PMID: 11499682

8

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.

Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF, Sarfarazi M, Burnand KG, Jeffery S, Mortimer P, Murday VA. Brice G, et al. Among authors: child ah. J Med Genet. 2002 Jul;39(7):478-83. doi: 10.1136/jmg.39.7.478. J Med Genet. 2002. PMID: 12114478 Free PMC article.

9

Milroy disease and the VEGFR-3 mutation phenotype.

Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P. Brice G, et al. Among authors: child ah. J Med Genet. 2005 Feb;42(2):98-102. doi: 10.1136/jmg.2004.024802. J Med Genet. 2005. PMID: 15689446 Free PMC article. Review.

10

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

Evans AL, Bell R, Brice G, Comeglio P, Lipede C, Jeffery S, Mortimer P, Sarfarazi M, Child AH. Evans AL, et al. Among authors: child ah. J Med Genet. 2003 Sep;40(9):697-703. doi: 10.1136/jmg.40.9.697. J Med Genet. 2003. PMID: 12960217 Free PMC article. No abstract available.

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